Varaico: Literature-Extracted Genetic Variants

LRP1

775 papers

RefSeq Summary

This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form...

Pfam Domains

Ldl_recept_aaa 25–64UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 70–108UCSCLow-density lipoprotein receptor domain class A

EGF_CAaa 150–188UCSCCalcium-binding EGF domain

Ldl_recept_baa 614–657UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 660–708UCSCLow-density lipoprotein receptor repeat class B

FXa_inhibitionaa 807–842UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

LDL receptor related protein 1

HGNC Previous Symbols

APR; A2MR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002332.3

p.D4491H

c.13471G>C

Surrounding Variants

1 paper

NM_002332.3

p.G4479G

c.13437A>T

2 papers

NM_002332.3

p.K4498_P4499Splc

c.13494+15G>A

1 paper

NM_002332.3

p.Y4473F

c.13418A>T

1 paper

NM_002332.3

p.N4470S

c.13409A>G

1 paper

NM_002332.3

p.R4458Q

c.13373G>A

1 paper

NM_002332.3

p.Y4507F

c.13520A>T

1 paper

NM_002332.3

p.Y4511F

c.13532A>T

1 paper

NM_002332.3

p.G4514delFs

c.13541delG

1 paper

NM_002332.3

p.G4514fs

c.13540_13541fs

1 paper

NM_002332.3

p.H4519Y

c.13555C>T

1 paper

NM_002332.3

p.S4520C

c.13559C>G

1 paper

NM_002332.3

p.A4522S

c.13564G>T